Canonical Allele Identifier: PA2830149660
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476528
ClinVar RCV Id: RCV000530753 RCV002274066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr1375Arg
CA351192223
NM_057167.4:c.4124C>G